Neurons in Tay-Sachs disease. Illustration showing swollen neurons with membraneous lamellar inclusions due to accumulation of gangliosides in lysosomes. Tay-Sachs disease is a disorder that progressively destroys brain neurons, is caused by a mutation in the HEXA gene of chromosome 15 leading to deficiency of hexosaminidase A. Tay-sachs is most commonly seen in infants, manifesting in muscle weakness and decreased motor function, vision and hearing loss, and intellectual disability. | |
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